---
_id: '12986'
abstract:
- lang: eng
  text: "Background\r\nDysregulations in cholesterol and lipid metabolism have been
    linked to human diseases like hypercholesterolemia, atherosclerosis or the metabolic
    syndrome. Many ABC transporters are involved in trafficking of metabolites derived
    from these pathways. Pseudoxanthoma elasticum (PXE), an autosomal-recessive disease
    caused by ABCC6 mutations, is characterized by atherogenesis and soft tissue calcification.\r\nMethods\r\nIn
    this study we investigated the regulation of cholesterol biosynthesis in human
    dermal fibroblasts from PXE patients and healthy controls.\r\nResults\r\nGene
    expression analysis of 84 targets indicated dysregulations in cholesterol metabolism
    in PXE fibroblasts. Transcript levels of ABCC6 were strongly increased in lipoprotein-deficient
    serum (LPDS) and under serum starvation in healthy controls. For the first time,
    increased HMG CoA reductase activities were found in PXE fibroblasts. We further
    observed strongly elevated transcript and protein levels for the proprotein convertase
    subtilisin/kexin type 9 (PCSK9), as well as a significant reduction in APOE mRNA
    expression in PXE.\r\nConclusion\r\nIncreased cholesterol biosynthesis, elevated
    PCSK9 levels and reduced APOE mRNA expression newly found in PXE fibroblasts could
    enforce atherogenesis and cardiovascular risk in PXE patients. Moreover, the increase
    in ABCC6 expression accompanied by the induction of cholesterol biosynthesis supposes
    a functional role for ABCC6 in human lipoprotein and cholesterol homeostasis."
article_number: '118'
author:
- first_name: Patricia
  full_name: Kuzaj, Patricia
  last_name: Kuzaj
- first_name: Joachim
  full_name: Kuhn, Joachim
  last_name: Kuhn
- first_name: Mareike
  full_name: Dabisch-Ruthe, Mareike
  id: '66516'
  last_name: Dabisch-Ruthe
  orcid: https://orcid.org/0009-0008-7644-0826
- first_name: Isabel
  full_name: Faust, Isabel
  last_name: Faust
- first_name: Christian
  full_name: Götting, Christian
  last_name: Götting
- first_name: Cornelius
  full_name: Knabbe, Cornelius
  last_name: Knabbe
- first_name: Doris
  full_name: Hendig, Doris
  last_name: Hendig
citation:
  ama: Kuzaj P, Kuhn J, Dabisch-Ruthe M, et al. ABCC6- a new player in cellular cholesterol
    and lipoprotein metabolism? <i>Lipids in Health and Disease</i>. 2014;13(1). doi:<a
    href="https://doi.org/10.1186/1476-511x-13-118">10.1186/1476-511x-13-118</a>
  apa: Kuzaj, P., Kuhn, J., Dabisch-Ruthe, M., Faust, I., Götting, C., Knabbe, C.,
    &#38; Hendig, D. (2014). ABCC6- a new player in cellular cholesterol and lipoprotein
    metabolism? <i>Lipids in Health and Disease</i>, <i>13</i>(1), Article 118. <a
    href="https://doi.org/10.1186/1476-511x-13-118">https://doi.org/10.1186/1476-511x-13-118</a>
  bjps: <b>Kuzaj P <i>et al.</i></b> (2014) ABCC6- a New Player in Cellular Cholesterol
    and Lipoprotein Metabolism? <i>Lipids in Health and Disease</i> <b>13</b>.
  chicago: Kuzaj, Patricia, Joachim Kuhn, Mareike Dabisch-Ruthe, Isabel Faust, Christian
    Götting, Cornelius Knabbe, and Doris Hendig. “ABCC6- a New Player in Cellular
    Cholesterol and Lipoprotein Metabolism?” <i>Lipids in Health and Disease</i> 13,
    no. 1 (2014). <a href="https://doi.org/10.1186/1476-511x-13-118">https://doi.org/10.1186/1476-511x-13-118</a>.
  chicago-de: Kuzaj, Patricia, Joachim Kuhn, Mareike Dabisch-Ruthe, Isabel Faust,
    Christian Götting, Cornelius Knabbe und Doris Hendig. 2014. ABCC6- a new player
    in cellular cholesterol and lipoprotein metabolism? <i>Lipids in Health and Disease</i>
    13, Nr. 1. doi:<a href="https://doi.org/10.1186/1476-511x-13-118">10.1186/1476-511x-13-118</a>,
    .
  din1505-2-1: '<span style="font-variant:small-caps;">Kuzaj, Patricia</span> ; <span
    style="font-variant:small-caps;">Kuhn, Joachim</span> ; <span style="font-variant:small-caps;">Dabisch-Ruthe,
    Mareike</span> ; <span style="font-variant:small-caps;">Faust, Isabel</span> ;
    <span style="font-variant:small-caps;">Götting, Christian</span> ; <span style="font-variant:small-caps;">Knabbe,
    Cornelius</span> ; <span style="font-variant:small-caps;">Hendig, Doris</span>:
    ABCC6- a new player in cellular cholesterol and lipoprotein metabolism? In: <i>Lipids
    in Health and Disease</i> Bd. 13. London, Biomed Central  (2014), Nr. 1'
  havard: P. Kuzaj, J. Kuhn, M. Dabisch-Ruthe, I. Faust, C. Götting, C. Knabbe, D.
    Hendig, ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?,
    Lipids in Health and Disease. 13 (2014).
  ieee: 'P. Kuzaj <i>et al.</i>, “ABCC6- a new player in cellular cholesterol and
    lipoprotein metabolism?,” <i>Lipids in Health and Disease</i>, vol. 13, no. 1,
    Art. no. 118, 2014, doi: <a href="https://doi.org/10.1186/1476-511x-13-118">10.1186/1476-511x-13-118</a>.'
  mla: Kuzaj, Patricia, et al. “ABCC6- a New Player in Cellular Cholesterol and Lipoprotein
    Metabolism?” <i>Lipids in Health and Disease</i>, vol. 13, no. 1, 118, 2014, <a
    href="https://doi.org/10.1186/1476-511x-13-118">https://doi.org/10.1186/1476-511x-13-118</a>.
  short: P. Kuzaj, J. Kuhn, M. Dabisch-Ruthe, I. Faust, C. Götting, C. Knabbe, D.
    Hendig, Lipids in Health and Disease 13 (2014).
  ufg: '<b>Kuzaj, Patricia u. a.</b>: ABCC6- a new player in cellular cholesterol
    and lipoprotein metabolism?, in: <i>Lipids in Health and Disease</i> 13 (2014),
    H. 1.'
  van: Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Götting C, Knabbe C, et al. ABCC6-
    a new player in cellular cholesterol and lipoprotein metabolism? Lipids in Health
    and Disease. 2014;13(1).
date_created: 2025-06-17T06:53:58Z
date_updated: 2025-06-17T13:49:15Z
department:
- _id: DEP4010
doi: 10.1186/1476-511x-13-118
intvolume: '        13'
issue: '1'
keyword:
- Pseudoxanthoma elasticum
- ABC transporter
- ABCC6
- Cholesterol biosynthesis
- Atherosclerosis
- HMG CoA reductase
- SREBP2
- PCSK9
- LDLR
- APOE
language:
- iso: eng
place: London
publication: Lipids in Health and Disease
publication_identifier:
  eissn:
  - 1476-511X
publication_status: published
publisher: 'Biomed Central '
quality_controlled: '1'
status: public
title: ABCC6- a new player in cellular cholesterol and lipoprotein metabolism?
type: scientific_journal_article
user_id: '83781'
volume: 13
year: '2014'
...